Severe Infantile Sialidosis-The Characteristics of Oligosaccharides Isolated from the Urine and the Abdominal Ascites.

Ovarian cancer is a major cause of cancer mortality among women, largely due to late diagnosis of advanced metastatic disease. More extensive molecular analysis of metastatic ovarian cancer is needed to identify post-translational modifications of proteins, especially glycosylation that is particularly associated with metastatic disease to better understand the metastatic process and identify potential therapeutic targets. Glycoproteins in ascites fluid were enriched by affinity binding to lectins (ConA or WGA) and other affinity matrices. Separate glycomic, proteomic, and glycopeptide analyses were performed. Relative abundances of different N-glycan groups and proteins were identified from ascites fluids and a serum control. Levels of biomarkers CA125, MUC1, and fibronectin were also monitored in OC ascites samples by Western blot analysis. N-Glycan analysis of ascites fluids showed the presence of large, highly fucosylated and sialylated complex and hybrid glycans, some of which were not observed in normal serum. OC ascites glycoproteins, haptoglobin, fibronectin, lumican, fibulin, hemopexin, ceruloplasmin, alpha-1-antitrypsin, and alpha-1-antichymotrypsin were more abundant in OC ascites or not present in serum control samples. Further glycopeptide analysis of OC ascites identified N-and O-glycans in clusterin, hemopexin, and fibulin glycopeptides, some of which are unusual and may be important in OC metastasis.

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“…35 The doubly sialylated form H6N4S2 has been identified in ascites fluid and urine of a female with infantile sialidosis. 36 …”

Section: Resultsmentioning

confidence: 99%

Glycoproteomic Analysis of Malignant Ovarian Cancer Ascites Fluid Identifies Unusual Glycopeptides

et al. 2016

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“…It can be observed that hydrops, ascites, and edema are the distinguishing features of the severe, congenital group of the disease, followed by coarse features, dysostosis multiplex, and hepatosplenomegaly. Renal involvement, cardiac anomalies, ophthalmic finding, myoclonus, inguinal hernia, telangiectasias, petechiae, bluish to purpuric macules and hydrocephalus are the clinical features that may infrequently manifest [ 9 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 ]. Studies reporting histopathological features of congenital sialidosis are limited.…”

Section: Morphological and Clinical Aspects Of Sialidosis And mentioning

confidence: 99%

Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder

Khan

Sergi

2018

Diagnostics

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Sialidosis (MIM 256550) is a rare, autosomal recessive inherited disorder, caused by α-N-acetyl neuraminidase deficiency resulting from a mutation in the neuraminidase gene (NEU1), located on 6p21.33. This genetic alteration leads to abnormal intracellular accumulation as well as urinary excretion of sialyloligosaccharides. A definitive diagnosis is made after the identification of a mutation in the NEU1 gene. So far, 40 mutations of NEU1 have been reported. An association exists between the impact of the individual mutations and the severity of clinical presentation of sialidosis. According to the clinical symptoms, sialidosis has been divided into two subtypes with different ages of onset and severity, including sialidosis type I (normomorphic or mild form) and sialidosis type II (dysmorphic or severe form). Sialidosis II is further subdivided into (i) congenital; (ii) infantile; and (iii) juvenile. Despite being uncommon, sialidosis has enormous clinical relevance due to its debilitating character. A complete understanding of the underlying pathology remains a challenge, which in turn limits the development of effective therapeutic strategies. Furthermore, in the last few years, some atypical cases of sialidosis have been reported as well. We herein attempt to combine and discuss the underlying molecular biology, the clinical features, and the morphological patterns of sialidosis type I and II.

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“…However, the infant lacked symptoms that were previously described as characteristic for sialidosis including skeletal abnormalities such as dysostosis multiplex and inguinal herniae [16]. Kelly et al [10] reported an 8-month-old female with coarse facies, hepatosplenomegaly, and dysostosis multiplex detected by radiography ®rst performed at the age of 10 days but evolving over months.…”

Section: Discussionmentioning

confidence: 92%

“…The inherited de®ciency of neuraminidase results in a lysosomal storage disease called sialidosis that is characterised by the excessive excretion of bound sialic acid in the urine [16]. After the ®rst clinical reports in the late 1970s, two major subtypes of sialidosis were distinguished based on additional dysmorphic features and the age of onset.…”

Section: Introductionmentioning

confidence: 99%

Clinical presentation of congenital sialidosis in a patient with a neuraminidase gene frameshift mutation

Buchholz¹,

Molitor

Lukong

et al. 2001

Eur J Pediatr

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Severe Infantile Sialidosis-The Characteristics of Oligosaccharides Isolated from the Urine and the Abdominal Ascites.

Cited by 8 publications

References 17 publications

Glycoproteomic Analysis of Malignant Ovarian Cancer Ascites Fluid Identifies Unusual Glycopeptides

Glycoproteomic Analysis of Malignant Ovarian Cancer Ascites Fluid Identifies Unusual Glycopeptides

Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder

Clinical presentation of congenital sialidosis in a patient with a neuraminidase gene frameshift mutation

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